Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
Diez-Fernandez, Carmen, Wellauer, Olivia, Gemperle, Corinne, Rüfenacht, Véronique, Fingerhut, Ralph, Häberle, Johannes
Published in Journal of medical genetics (01.10.2016)
Published in Journal of medical genetics (01.10.2016)
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Journal Article
Expression and function of the urea cycle in widely-used hepatic cellular models
Makris, Georgios, Veit, Lara, Rüfenacht, Véronique, Klassa, Sven, Zürcher, Nadia, Matsumoto, Shirou, Poms, Martin, Häberle, Johannes
Published in Journal of inherited metabolic disease (08.01.2024)
Published in Journal of inherited metabolic disease (08.01.2024)
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Journal Article
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
Diez‐Fernandez, Carmen, Rüfenacht, Véronique, Gemperle, Corinne, Fingerhut, Ralph, Häberle, Johannes
Published in Human mutation (01.08.2018)
Published in Human mutation (01.08.2018)
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A constitutive knockout of murine carbamoyl phosphate synthetase 1 results in death with marked hyperglutaminemia and hyperammonemia
Khoja, Suhail, Nitzahn, Matthew, Truong, Brian, Lambert, Jenna, Willis, Brandon, Allegri, Gabriella, Rüfenacht, Véronique, Häberle, Johannes, Lipshutz, Gerald S.
Published in Journal of inherited metabolic disease (01.11.2019)
Published in Journal of inherited metabolic disease (01.11.2019)
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Journal Article
Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis
Spodenkiewicz, Marta, Diez-Fernandez, Carmen, Rüfenacht, Véronique, Gemperle-Britschgi, Corinne, Häberle, Johannes
Published in Biology (19.10.2016)
Published in Biology (19.10.2016)
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Book Review
Mutations and Polymorphisms in the Human Argininosuccinate Lyase (ASL) Gene
Balmer, Cécile, Pandey, Amit V., Rüfenacht, Véronique, Nuoffer, Jean-Marc, Fang, Ping, Wong, Lee-Jun, Häberle, Johannes
Published in Human mutation (01.01.2014)
Published in Human mutation (01.01.2014)
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Journal Article
N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region
Williams, Monique, Burlina, Alberto, Rubert, Laura, Polo, Giulia, Ruijter, George J G, van den Born, Myrthe, Rüfenacht, Véronique, Haskins, Nantaporn, van Zutven, Laura J C M, Tuchman, Mendel, Saris, Jasper J, Häberle, Johannes, Caldovic, Ljubica
Published in Scientific reports (18.10.2018)
Published in Scientific reports (18.10.2018)
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Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man
Rivera-Barahona, Ana, Sánchez-Alcudia, Rocío, Viecelli, Hiu Man, Rüfenacht, Veronique, Pérez, Belén, Ugarte, Magdalena, Häberle, Johannes, Thöny, Beat, Desviat, Lourdes Ruiz
Published in PloS one (08.04.2015)
Published in PloS one (08.04.2015)
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Non-coding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene
Häberle, Johannes, Moore, Marvin B., Haskins, Nantaporn, Rüfenacht, Véronique, Rokicki, Dariusz, Rubio-Gozalbo, Estela, Tuchman, Mendel, Longo, Nicola, Yandell, Mark, Andrews, Ashley, AhMew, Nicholas, Caldovic, Ljubica
Published in Human mutation (24.09.2021)
Published in Human mutation (24.09.2021)
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Journal Article
Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders
Makris, Georgios, Lauber, Matthias, Rüfenacht, Véronique, Gemperle, Corinne, Diez-Fernandez, Carmen, Caldovic, Ljubica, Froese, D. Sean, Häberle, Johannes
Published in Biochimie (01.04.2021)
Published in Biochimie (01.04.2021)
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Journal Article
ROLE OF ECTOPIC EXPRESSION OF UREA CYCLE ENZYMES IN COMMON MALIGNANCIES
Makris, Georgios, Kayhan, Semih, Kreuzer, Marvin, Rüfenacht, Véronique, Faccin, Erica, Underhaug, Jarl, Diez-Fernandez, Carmen, Knobel, Philip A., Poms, Martin, Martinez, Aurora, Pruschy, Martin, Häberle, Johannes
Published in Molecular genetics and metabolism (01.04.2022)
Published in Molecular genetics and metabolism (01.04.2022)
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Journal Article
Cover Image, Volume 39, Issue 8
Diez-Fernandez, Carmen, Rüfenacht, Véronique, Gemperle, Corinne, Fingerhut, Ralph, Häberle, Johannes
Published in Human mutation (01.08.2018)
Published in Human mutation (01.08.2018)
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Journal Article
Aquaporin 9 induction in human iPSC‐derived hepatocytes facilitates modeling of ornithine transcarbamylase deficiency
Laemmle, Alexander, Poms, Martin, Hsu, Bernadette, Borsuk, Mariia, Rüfenacht, Véronique, Robinson, Joshua, Sadowski, Martin C., Nuoffer, Jean‐Marc, Häberle, Johannes, Willenbring, Holger
Published in Hepatology (Baltimore, Md.) (01.09.2022)
Published in Hepatology (Baltimore, Md.) (01.09.2022)
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Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
Laemmle, Alexander, Hahn, Dagmar, Hu, Liyan, Rüfenacht, Véronique, Gautschi, Matthias, Leibundgut, Kurt, Nuoffer, Jean-Marc, Häberle, Johannes
Published in Molecular genetics and metabolism (01.03.2015)
Published in Molecular genetics and metabolism (01.03.2015)
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Journal Article
Understanding the Role of Argininosuccinate Lyase Transcript Variants in the Clinical and Biochemical Variability of the Urea Cycle Disorder Argininosuccinic Aciduria
Hu, Liyan, Pandey, Amit V., Eggimann, Sandra, Rüfenacht, Véronique, Möslinger, Dorothea, Nuoffer, Jean-Marc, Häberle, Johannes
Published in The Journal of biological chemistry (29.11.2013)
Published in The Journal of biological chemistry (29.11.2013)
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